Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6-month follow up

Xiaofei Yin; Jidong Liu; Ruiying Feng; Mingyue Xu; Jinbo Liu

doi:10.1111/jdi.13549

Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6-month follow up

J Diabetes Investig. 2021 Oct;12(10):1919-1922. doi: 10.1111/jdi.13549. Epub 2021 Apr 7.

Authors

Xiaofei Yin^{1

2

3

4}, Jidong Liu^{1

2

3

4}, Ruiying Feng^{1

2

3

4}, Mingyue Xu^{1

2

3

4}, Jinbo Liu^{1

2

3

4}

Affiliations

¹ Department of Endocrinology, Cheeloo College of Medicine, Qilu Hospital, Shandong University, Jinan, China.
² Institute of Endocrine and Metabolic Diseases, Shandong University, Jinan, China.
³ Key Laboratory of Endocrine and Metabolic Diseases, Shandong Province Medicine & Health, Jinan, China.
⁴ Jinan Clinical Research Center for Endocrine and Metabolic Diseases, Jinan, China.

Abstract

SHORT syndrome (short stature, hyperextensibility, ocular depression [deeply set eyes], Rieger anomaly and teething delay) is very rare, with a few cases reported in the literature. We report a case of SHORT syndrome with a novel PIK3R1 mutation (c.2008delT) and complicated with severe insulin resistance. Although no treatment guidelines are available to relieve insulin resistance in SHORT syndrome, our treatment plans, including lifestyle intervention combined with metformin and pioglitazone, were carried out for this patient. After the intervention, insulin resistance and hyperinsulinemia in this patient were significantly decreased during a 6-month follow up, which showed the effect of our therapeutic strategies.

Keywords: PIK3R1; Insulin resistance; SHORT syndrome.

Publication types

Case Reports

MeSH terms

Child
Class Ia Phosphatidylinositol 3-Kinase / genetics*
Growth Disorders / genetics*
Humans
Hypercalcemia / genetics*
Insulin Resistance*
Male
Metabolic Diseases / genetics*
Mutation
Nephrocalcinosis / genetics*

Substances

PIK3R1 protein, human
Class Ia Phosphatidylinositol 3-Kinase

Supplementary concepts

SHORT syndrome